在基因的第七外显子插入了一段新霉素 cassette,导致了开放阅读框的中断。这个位置对应于蛋白质第三个跨膜域的羧基端,包含10个氨基酸残基。对完整胚胎RNA的Northern blot分析未在纯合突变胚胎中检测到可识别的mRNA。 Western blot结果显示,纯合突变胚胎中缺失了17 kD的蛋白质C端片段。(来源:J:71037)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
129P2/OlaHsd
Targeted
插入
--
1
17
21

Phenotypes

Legend:
hm: homozygous
ht: heterozygous
cn: conditional genotype
cx: complex: > 1 genome feature
tg: involves transgenes
ot: other: hemizygous, indeterminate,...
(F): Female
(M): Male
phenotype observed
N: normal phenotype
(#): related diseases count
Phenotypes:
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Phenotypes

References Literature

Title
PMID
Journal
Year
IF
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